Opal 4.16 Release Notes

Charlene Son-Rigby
- May 05, 2016 05:32

15 January 2016

Opal 4.16 is now live!

We are excited to announce the release of ACMG Scoring and Classification within Opal Clinical. Opal Clinical fully supports compliance with the 2015 ACMG Guidelines for interpretation of sequence variants, and accelerates evaluation of the evidence associated with each of the 28 criteria to classify variants.

ACMG Scoring

The American College of Medical Genetics and Genomics' 2015 guidelines1 provide critical standardization and consistency, but can be complex and time consuming to implement. To accelerate and scale interpretation, the ACMG classification guidelines have been fully integrated within Opal’s comprehensive annotation and interpretation workflows.

Opal Clinical’s ACMG Scoring module provides a guided assessment with recommendations, and a simple checkbox evaluation methodology for each criterion. To support the scoring process, Opal Clinical has expanded gene and variant annotations, broader support for condition-gene curation, and more robust citation management for segregation and functional studies.

Opal Clinical's ACMG Scoring module:

Supports full compliance with 2015 ACMG Guidelines

Provides a guided assessment with recommendations and simple yes/no evaluation

Provides expanded annotations and comprehensive support for gene and condition-gene curation

Enables management of citations for segregation and functional studies, and automatically includes references in the clinical report

In addition, the Opal architecture is flexible, allowing customization of classification rules, enabling labs with existing classification systems, as well as those that have extended the ACMG criteria to further standardize and accelerate their interpretation processes.

1Richards S, Aziz N, Bale S, et al. Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genetics in medicine : official journal of the American College of Medical Genetics. 2015;17(5):405-424. doi:10.1038/gim.2015.30.

Expanded Annotations

Opal's annotations have significantly expanded in this release to better support evaluation of the ACMG criteria. New annotations include: